A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

Jin Mo Park, Ye Jin Kim, Jeong Hyun Yoo, Young Bin Hong, Ji Hoon Park, Heasoo Koo, Ki Wha Chung, Byung Ok Choi

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Laing distal myopathy (LDM) is caused by mutations in the MYH7 gene, and known to have muscle weakness of distal limbs and neck flexors. Through whole exome sequencing, we identified a novel p.Ala1439Pro MYH7 mutation in a Korean LDM family. This missense mutation is located in more N-terminal than any reported rod domain LDM mutations. In the early stage of disease, the present patients showed similar clinical patterns to the previously described patients of LDM. However, in the later stage, fatty replacement and atrophy of paraspinal or proximal leg muscles was more severely marked than lower leg muscles, and asymmetric atrophies were observed in trapezius, subscapularis and adductor magnus muscles. Distal myopathy like LDM showed marked and predominant fatty infiltrations in paraspinal or proximal leg muscles with marked asymmetry. These observations expand the clinical spectrum of LDM with the MYH7 mutation.

Original languageEnglish
Pages (from-to)580-586
Number of pages7
JournalNeuromuscular Disorders
Issue number7
StatePublished - Jul 2013

Bibliographical note

Funding Information:
This study was supported in part by the Korean Health Technology R&D Project, Ministry of Health & Welfare ( A120814 ), and by Basic Science Research Program through the National Research Foundation (NRF) funded by the Ministry of Education, Science and Technology, Republic of Korea ( 2011-0021533 ).


  • Exome
  • Korean
  • Laing distal myopathy
  • MRI
  • MYH7


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